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Mosaic alterations

Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy

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Brain somatic mosaicism is linked to several neurological disorders and is thought to arise post-zygotically. A study suggests that pre-zygotic aneuploidy followed by post-zygotic partial reversion leads to a recurrent form of brain mosaicism-related epilepsy.

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Fig. 1: Focal brain dysplasia originates from a pre-zygotic 1q gain, subsequently mitigated by post-zygotic rescue in one or more cells.

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Authors and Affiliations

  1. Rady Children’s Institute of Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA

    Changuk Chung, Xiaoxu Yang & Joseph G. Gleeson

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  1. Changuk Chung
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  2. Xiaoxu Yang
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  3. Joseph G. Gleeson
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Correspondence to Joseph G. Gleeson.

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The authors declare no competing interests.

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Chung, C., Yang, X. & Gleeson, J.G. Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy. Nat Genet 55, 1784–1785 (2023). https://doi.org/10.1038/s41588-023-01552-2

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